Prader-Willi Syndrome: Periodontal-prosthodontic rehabilitation in an adult patient

 

Justin Mackert, Brian Mears, DJ Pannu, Mira Ghaly, Jimmy Londono, Ahmed R. El-Awady, James Thompson, Mark. E. Peacock

 

INTRODUCTION

Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from partial or complete chromosome 15 deletions that manipulate gene expression. The occurrence frequency of PWS has been reported to be from 1:10 000 to 1:30 000 births.1 Major symptoms early in life include hypotonia (decreased muscle tone) leading to feeding problems, and conversely, later in childhood, hyperphagia which can progress to morbid obesity and a shorter life expectancy. In a 40-year mortality survey by Butler et al. it was reported that respiratory failure was the most common cause of death (31%), and a 99% mortality rate was reached by the age of 60. Short stature with increased fat composition, and low levels of growth and sex hormones are regularly observed, along with mild to moderate intellectual deficiency. The impaired cognition may lead to significant behavioral and social issues. Recombinant human growth hormone (rhGH) until adulthood is a mainstay of treatment, along with diet, exercise, and behavioral/mental therapy. Once the PWS patient reaches adulthood, however, the focus usually becomes one of treating multiple chronic problems resultant from this condition.

Oral health conditions commonly seen in PWS children and adults include rampant caries, minimal thick salivary flow, enamel hypoplasia leading to severe dental erosion and attrition, candidiasis, delayed dental eruption with possible malocclusion and periodontal disease. High refined carbohydrate intake combined with inadequate oral hygiene can further advance the complications seen in this patient population, as well as higher rates of diabetes, respiratory problems, and cardiovascular issues. Continual support and maintenance by family/caregivers is imperative for the patient's well-being, and to increase the likelihood of achieving longevity.

Due to the rareness of PWS, documentation of successfully treated adult cases in the literature is uncommon. There is only one previously published PWS case in periodontology journals, and that was 32 years ago in a pediatric patient. This case report documents full-mouth periodontal surgical and prosthodontic treatment with follow-up in a PWS adult patient.